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COG5-CDG with a Mild Neurohepatic Presentation

The conserved oligomeric Golgi (COG) complex is an eight subunit protein involved in the retrograde transport of Golgi components. It affects the localization of several Golgi glycosyltransferases and hence is involved in N- and O-glycosylation. Genetic defects in this complex belong to the rapidly...

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Detalhes bibliográficos
Main Authors: Fung, C. W., Matthijs, G., Sturiale, L., Garozzo, D., Wong, K. Y., Wong, R., Wong, V., Jaeken, J.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509859/
https://ncbi.nlm.nih.gov/pubmed/23430875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_61
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